Kelly Metcalfe, University of Toronto

April 5, 2016

In 1994 and 1995, a collective effort among scientists led to the discovery of two important cancer genes—namely, BRCA1 and BRCA2. Women who have a mutation (genetic change) in one of these two genes have a significantly increased risk of both breast and ovarian cancer in their lifetimes.

In the past 20 years, our understanding of the implications of having a BRCA1 or BRCA2 gene mutation has changed. As a result of advances in research, new options such as magnetic resonance imaging (MRI) are available for screening, and cancer risks can be reduced by preventive strategies.

Yet not all BRCA carriers have been kept up to date on the latest prevention strategies. If you are a woman with a mutation in BRCA1 or BRCA2, you may be eligible to participate in a new clinical study to learn about the most recent research and treatment guidelines.

After learning that one has a BRCA1 or BRCA2 mutation, it can be overwhelming to navigate through the decisions surrounding cancer screening and management. Also, some carriers learned about their carrier status at a young age, when limited options were available. These women face challenges and choices that differ from those of the general population—from psychological consequences to having to consider surgeries.

We learn from our patients, and we have realized that some BRCA carriers developed avoidable cancers because they did not know about the latest prevention strategies. We feel that it is important for BRCA carriers to stay in touch with their healthcare providers so that they can be updated about new research and new treatment guidelines as they continue to change. To make this possible, a clinical study was developed to address the follow-up of BRCA1 and BRCA2 carriers. This follow-up telephone genetic counseling study involves two short questionnaires and a scheduled telephone appointment with a certified genetic counselor.

Other research studies have demonstrated that follow-up telephone genetic counseling is effective. This study is led by Dr. Kelly Metcalfe, a professor at the Faculty of Nursing at the University of Toronto and the recipient of the new investigator award of the Canadian Institute of Health Research, and Dr. Steven Narod, a Tier I Research Chair in Breast Cancer at the University of Toronto.

If you are a woman with a mutation in BRCA1 or BRCA2, you may be eligible for this clinical study. Please contact the study genetic counselor, Dawn Lee, at 416-323-6400 ext. 2725 or by email.